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Catel Manzke Syndrome

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Catel Manzke Syndrome is not the name you expected.

Disorder Subdivisions

None

General Discussion

SummaryCatel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers and the classic features of Pierre Robin sequence. Affected individuals have an extra bone at the base of the index that causes the index fingers to be locked in a bent position (clinodactyly). Pierre Robin sequence refers to abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin sequence is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). A variety of additional physical findings can also be present. The specific symptoms can vary from one person to another. Alterations (mutations) in the TGDS gene have been identified in individuals with Catel-Manzke syndrome.

IntroductionCatel-Manzke syndrome was first described in the medical literature in 1961 by Dr. Catel and later further evaluated by Dr. Manzke in 1966. The disorder was originally referred to as a palatodigital syndrome, but because cleft palate does not always occur, Dr. Manzke suggested replacing palatodigital syndrome with micrognathia-digital syndrome.

Supporting Organizations

American Cleft Palate-Craniofacial Association

1504 East Franklin Street

Suite 102

Chapel Hill, NC 27514-2820

USA

Tel: (919)933-9044

Fax: (919)933-9604

Tel: (800)242-5338

Email: info@cleftline.org

Website: http://www.cleftline.org

American Heart Association

7272 Greenville Avenue

Dallas, TX 75231

Tel: (214)784-7212

Fax: (214)784-1307

Tel: (800)242-8721

Email: Review.personal.info@heart.org

Website: http://www.heart.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Website: http://www.nhlbi.nih.gov/

Pierre Robin Network

3604 Biscayne

Quincy, IL 62305

USA

Tel: (217)224-0698

Fax: (217)224-2867

Email: info@pierrerobin.org

Website: http://www.pierrerobin.org

Prescription Parents

22 Ingersoll Road

P.O. Box 920554

Wellesley, MA 2181

USA

Tel: (617)499-1936

Email: info@prescriptionparents.org

Website: http://www.prescriptionparents.org

Wide Smiles

P.O. Box 5153

Stockton, CA 95205-0153

USA

Tel: (209)942-2812

Fax: (209)464-1497

Email: josmiles@yahoo.com

Website: http://www.widesmiles2.org/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 12/8/2015Copyright 2015 National Organization for Rare Disorders, Inc.

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